PHRF1 | Mutation | In-Frame | ENST00000416188.2 |
g.607474_607476del
|
c.2015_2017del
|
p.Arg672del
|
damaging
|
ACSM3 | Mutation | In-Frame | ENST00000289416.5 |
g.20808273_20808275del
|
c.1740_1742del
|
p.Lys581del
|
damaging
|
LRP2 | Mutation | In-Frame | ENST00000263816.3 |
g.170063198_170063200del
|
c.7030_7032del
|
p.Asn2344del
|
damaging
|
KPNA7 | Mutation | In-Frame | ENST00000327442.6 |
g.98771410_98771412del
|
c.1470_1472del
|
p.Glu490del (Splice)
|
damaging
|
CRH | Mutation | In-Frame | ENST00000276571.3 |
g.67089559_67089560insGCG
|
c.154_155insGCC
|
p.Pro51_Gln52insArg
|
damaging
|
DBT | Mutation | Missense | ENST00000370131.3 |
g.100696450G>A
|
c.272C>T
|
p.Thr91Ile
|
benign
|
EXTL2 | Mutation | Missense | ENST00000370113.3 |
g.101339831G>C
|
c.660C>G
|
p.Ser220Arg
|
benign
|
CELSR2 | Mutation | Missense | ENST00000271332.3 |
g.109792780C>T
|
c.79C>T
|
p.Pro27Ser
|
benign
|
TARDBP | Mutation | Missense | ENST00000240185.3 |
g.11080604T>A
|
c.662T>A
|
p.Phe221Tyr
|
possibly damaging
|
SLC16A4 | Mutation | Missense | ENST00000369779.4 |
g.110921937G>C
|
c.568C>G
|
p.Pro190Ala
|
possibly damaging
|
PHGDH | Mutation | Missense | ENST00000369409.4 |
g.120284468C>T
|
c.1157C>T
|
p.Ala386Val
|
benign
|
MFN2 | Mutation | Missense | ENST00000235329.5 |
g.12065963G>A
|
c.1691G>A
|
p.Arg564Gln
|
possibly damaging
|
PIP5K1A | Mutation | Missense | ENST00000368888.4 |
g.151204758A>C
|
c.403A>C
|
p.Asn135His
|
possibly damaging
|
FLG | Mutation | Missense | ENST00000368799.1 |
g.152279617C>G
|
c.7745G>C
|
p.Arg2582Thr
|
benign
|
FLG2 | Mutation | Missense | ENST00000388718.5 |
g.152331326A>G
|
c.35T>C
|
p.Ile12Thr
|
possibly damaging
|
KAZN | Mutation | Missense | ENST00000376030.2 |
g.15382719C>T
|
c.859C>T
|
p.Arg287Trp
|
probably damaging
|
CRTC2 | Mutation | Missense | ENST00000368633.1 |
g.153925051T>G
|
c.698A>C
|
p.Lys233Thr
|
probably damaging
|
KCNN3 | Mutation | Missense | ENST00000271915.4 |
g.154842210C>A
|
c.231G>T
|
p.Gln77His
|
benign
|
UBQLN4 | Mutation | Missense | ENST00000368309.3 |
g.156011760G>A
|
c.1369C>T
|
p.Leu457Phe
|
probably damaging
|
ARHGEF19 | Mutation | Missense | ENST00000270747.3 |
g.16525116C>T
|
c.2375G>A
|
p.Ser792Asn
|
benign
|
DUSP27 | Mutation | Missense | ENST00000271385.5 |
g.167096794C>T
|
c.2426C>T
|
p.Ala809Val
|
benign
|
ARHGEF10L | Mutation | Missense | ENST00000361221.3 |
g.18023630G>A
|
c.3595G>A
|
p.Ala1199Thr
|
benign
|
HMCN1 | Mutation | Missense | ENST00000271588.4 |
g.186057112C>G
|
c.9412C>G
|
p.Arg3138Gly
|
probably damaging
|
HMCN1 | Mutation | Missense | ENST00000271588.4 |
g.186062340C>A
|
c.9962C>A
|
p.Ala3321Asp
|
probably damaging
|
IPO9 | Mutation | Missense | ENST00000361565.4 |
g.201837847A>G
|
c.1927A>G
|
p.Met643Val
|
benign
|